| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.17592721G>A | CA16616867 | ATP6V1E1 | c.634C>T (p.Arg212Trp) c.544C>T (p.Arg182Trp) c.568C>T (p.Arg190Trp) n.780C>T | ClinVar dbSNP gnomAD v4 |
| 22 | g.17592721G= | CA2395165933 | ATP6V1E1 | c.634C= (p.Arg212=) c.544C= (p.Arg182=) c.568C= (p.Arg190=) n.780C= | dbSNP |